RESUMEN
Abnormalities associated with phosphate metabolism can lead to thoracic deformities that result in respiratory failure, which is conventionally managed by means of supplemental oxygenation, positive airway pressure and physiotherapy. However, when these measures fail, the clinician faces a dilemma, since many patients cannot tolerate a major surgical procedure. A minimally invasive technique, insertion of an endobronchial stent, might offer a solution.
Asunto(s)
Raquitismo Hipofosfatémico Familiar , Insuficiencia Respiratoria , Raquitismo Hipofosfatémico , Humanos , Raquitismo Hipofosfatémico Familiar/complicaciones , Raquitismo Hipofosfatémico/complicaciones , Insuficiencia Respiratoria/etiología , Insuficiencia Respiratoria/terapia , Stents/efectos adversosRESUMEN
Hypophosphataemic rickets is a rare, genetic disorder resulting in defect bone mineralisation and rickets. The current medical treatment consists of phosphate supplementation and alfacalcidol, but side effects such as secondary hyperparat-hyroidism and nephrocalcinosis are common. This treatment regimen often fails to prevent bone deformity and reduced final height. The rarity and complexity of these diseases call for centralised specialist care and international collaboration. Future medical treatment may be improved by addition of new promising experimental treatments.
Asunto(s)
Raquitismo Hipofosfatémico/tratamiento farmacológico , Conservadores de la Densidad Ósea/administración & dosificación , Conservadores de la Densidad Ósea/efectos adversos , Conservadores de la Densidad Ósea/uso terapéutico , Niño , Cinacalcet/administración & dosificación , Cinacalcet/efectos adversos , Cinacalcet/uso terapéutico , Factor-23 de Crecimiento de Fibroblastos , Factores de Crecimiento de Fibroblastos/antagonistas & inhibidores , Factores de Crecimiento de Fibroblastos/sangre , Factores de Crecimiento de Fibroblastos/metabolismo , Enfermedades Genéticas Ligadas al Cromosoma X , Humanos , Hidroxicolecalciferoles/administración & dosificación , Hidroxicolecalciferoles/efectos adversos , Hidroxicolecalciferoles/uso terapéutico , Oligopéptidos/administración & dosificación , Oligopéptidos/efectos adversos , Oligopéptidos/uso terapéutico , Fosfatos/administración & dosificación , Fosfatos/efectos adversos , Fosfatos/sangre , Fosfatos/uso terapéutico , Inhibidores de Proteasas/administración & dosificación , Inhibidores de Proteasas/efectos adversos , Inhibidores de Proteasas/uso terapéutico , Radiografía , Raquitismo Hipofosfatémico/complicaciones , Raquitismo Hipofosfatémico/diagnóstico por imagen , Raquitismo Hipofosfatémico/fisiopatologíaRESUMEN
OBJECTIVE: To present clinical and etiological profile of refractory rickets from Mumbai. METHODS: Case records of 36 patients presenting over 2½ y with refractory rickets were evaluated with respect to clinical presentation, biochemical, radiological features and where needed, ophthalmological examination, ultrasonography and special tests on blood and urine. RESULTS: Twenty three (63 %) patients had renal tubular acidosis (RTA)-distal RTA in 20 and proximal RTA in 3 patients; 5 (14 %) had vitamin D dependent rickets (VDDR I in 2 and VDDR II in 3 patients), 4 (11 %) had chronic renal failure (CRF) and 2 each (6 %) had hypophosphatemic rickets and chronic liver disease as cause of refractory rickets. A significant proportion of patients with RTA and VDDR showed skeletal changes of rickets in the first 2 y of life, while those with hypophosphatemic rickets presented later. Patients with hypophosphatemic rickets had predominant involvement of lower limbs, normal blood calcium and PTH levels and phosphorus leak in urine. All patients with RTA presented with failure to thrive, polyuria and marked rickets; blood alkaline phosphatase levels being normal in almost 50 % patients. Three (75 %) patients with rickets due to CRF had GFR < 30 ml/min/1.73 m(2) and hyperphosphatemia. Patients with cirrhosis due to biliary atresia had rickets inspite of taking high dose of vitamin D orally. CONCLUSIONS: Refractory rickets is a disorder of multiple etiologies; a good history and clinical examination supplemented with appropriate investigations helps to determine its cause.